rs72551315

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs72551315(C;T)

Make rs72551315(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

218812596

Gene

CYP27A1

is a	snp
is	mentioned by
dbSNP	rs72551315
dbSNP (classic)	rs72551315
ClinGen	rs72551315
ebi	rs72551315
HLI	rs72551315
Exac	rs72551315
Gnomad	rs72551315
Varsome	rs72551315
LitVar	rs72551315
Map	rs72551315
PheGenI	rs72551315
Biobank	rs72551315
1000 genomes	rs72551315
hgdp	rs72551315
ensembl	rs72551315
geneview	rs72551315
scholar	rs72551315
google	rs72551315
pharmgkb	rs72551315
gwascentral	rs72551315
openSNP	rs72551315
23andMe	rs72551315
SNPshot	rs72551315
SNPdbe	rs72551315
MSV3d	rs72551315
GWAS Ctlg	rs72551315

Max Magnitude

0

ClinVar
Risk	rs72551315(T;T)
Alt	rs72551315(T;T)
Reference	Rs72551315(C;C)
Significance	Pathogenic
Disease	Cholestanol storage disease
Variation	info
Gene	CYP27A1
CLNDBN	Cholestanol storage disease
Reversed	0
HGVS	NC_000002.11:g.219677319C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056136.1,